| 基因名 | 突变 |
|---|---|
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:40978644C>T,c.116C>T,p.A39V |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:40978640G>A,c.112G>A,p.A38T |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66483381G>A,c.229C>T,p.R77W |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66481628T>C,c.590A>G,p.N197S |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66472775G>A,c.1972C>T,p.R658W |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66472585C>T,c.2162G>A,p.R721H |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66472348C>T,c.2399G>A,p.R800Q |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66472274T>C,c.2473A>G,p.S825G |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66472213G>A,c.2534C>T,p.A845V |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66468736C>T,c.2834G>A,p.R945H |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66468479C>T,c.3091G>A,p.A1031T |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66468469A>G,c.3101T>C,p.V1034A |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66468454C>T,c.3116G>A,p.R1039Q |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66468202C>T,c.3368G>A,p.R1123Q |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66468173G>A,c.3397C>T,p.R1133W |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66466982T>C,c.3671A>G,p.N1224S |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66464004C>T,c.4022G>A,p.R1341Q |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66460844G>A,c.4667C>T,p.A1556V |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66460505C>T,c.4921G>A,p.A1641T |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66460483G>A,c.4943C>T,p.A1648V |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66460141G>A,c.5056C>T,p.R1686W |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66457682G>A,c.5638C>T,p.R1880C |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66457681C>T,c.5639G>A,p.R1880H |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66457516C>T,c.5804G>A,p.R1935H |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66457412_66457413insC,c.5812_5813insG,p.1938fs |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66456618G>A,c.5983C>T,p.R1995C |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66456617C>T,c.5984G>A,p.R1995H |
| SPTBN2(NM_006946,spectrin, beta, non-erythrocytic 2,2390aa) | g.11:66454564G>A,c.6797C>T,p.A2266V |